EGF, epidermal growth factor, 1950

N. diseases: 774; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434567
rs121434567 		1.000 0.160 4 110004540 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C2673648
Disease: Hypomagnesemia 4, Renal
Hypomagnesemia 4, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2007 2007
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.030 1.000 3 2012 2016
dbSNP: rs11569017
rs11569017 		0.925 0.120 4 109980955 missense variant A/T snv 7.3E-02 5.0E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2013 2013
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.060 1.000 6 2011 2016
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2012 2019
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2014
dbSNP: rs11569017
rs11569017 		0.925 0.120 4 109980955 missense variant A/T snv 7.3E-02 5.0E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1336242054
rs1336242054 		1.000 0.080 4 109974747 missense variant A/G snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2237051
rs2237051 		0.925 0.120 4 109980042 missense variant G/A snv 0.46 0.53
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3756261
rs3756261 		0.925 0.160 4 109911150 upstream gene variant T/C snv 9.9E-02
CUI: C0013537
Disease: Eclampsia
Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs781754383
rs781754383 		0.882 0.080 4 109960942 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.030 1.000 3 2012 2014